Friedreich’s ataxia in patients with FXN p.R165P point mutation

Friedreich’s ataxia in patients with FXN p.R165P point mutation. E. Ygland, F. Taroni, C. Gellera, M. Duno, P. Johnels, M. Soller, A. Puschmann; Neurogenetics, EFNS European Journal of Neurology 19 (Suppl. 1), 458–807.
Keywords: Friedreich’s ataxia (FRDA), postural ataxia, dysarthria, neuropathy, muscle weakness, cardiomyopathy, frataxin, GAA trinucleotide expansions in FXN, point mutation, FXN p.R165P missense mutation, FRDA rating scale (FARS), hemochromatosis, iron metabolism.

Posted byJuan Carlos Baiges
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